Allele Registry

Canonical Allele Identifier: PA231828

Gene: RYR1 HGNC NCBI

ClinVar Allele:

136794

ClinVar RCV:

RCV000119474

RCV000148813

RCV000518398

RCV000531069

RCV000853260

RCV004017407

ClinVar Variation:

133046

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Arg44His	CA024037 NM_000540.3:c.131G>A